ClinVar Miner

List of variants in gene combination C1QTNF5, MFRP reported as benign by Invitae

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Gene type:
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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_031433.4(MFRP):c.540T>C (p.His180=) rs2510143 0.91859
NM_031433.4(MFRP):c.406G>A (p.Val136Met) rs3814762 0.24523
NM_031433.4(MFRP):c.492C>T (p.Tyr164=) rs36015759 0.23503
NM_031433.4(MFRP):c.1387+3G>A rs11217241 0.08734
NM_031433.4(MFRP):c.954G>A (p.Leu318=) rs35885438 0.04136
NM_031433.4(MFRP):c.770G>A (p.Arg257His) rs61736238 0.03023
NM_031433.4(MFRP):c.355A>G (p.Ile119Val) rs4639950 0.01611
NM_031433.4(MFRP):c.160C>G (p.Arg54Gly) rs139436396 0.00934
NM_031433.4(MFRP):c.1374G>T (p.Leu458Phe) rs145881139 0.00888
NM_031433.4(MFRP):c.1635G>A (p.Ala545=) rs138370910 0.00631
NM_031433.4(MFRP):c.975+18T>C rs185451482 0.00589
NM_031433.4(MFRP):c.72T>C (p.Pro24=) rs77225944 0.00362
NM_031433.4(MFRP):c.641+9C>T rs189840088 0.00337
NM_031433.4(MFRP):c.773-8A>C rs143891457 0.00264
NM_031433.4(MFRP):c.*1237G>A rs148291350 0.00207
NM_031433.4(MFRP):c.669G>A (p.Thr223=) rs139222274 0.00187
NM_031433.4(MFRP):c.773-9C>T rs187321874 0.00176
NM_031433.4(MFRP):c.195C>T (p.Phe65=) rs138913508 0.00111
NM_031433.4(MFRP):c.315G>A (p.Leu105=) rs141109062 0.00085
NM_031433.4(MFRP):c.157+7A>G rs150062629 0.00069
NM_001278431.2(C1QTNF5):c.214+9G>A rs771777653 0.00039
NM_031433.4(MFRP):c.192C>G (p.Arg64=) rs200143181 0.00019
NM_001278431.2(C1QTNF5):c.36G>A (p.Leu12=) rs534690569 0.00012
NM_031433.4(MFRP):c.807G>A (p.Gln269=) rs371537663 0.00003
NM_031433.4(MFRP):c.1124+11C>G rs199473709 0.00002
NM_031433.4(MFRP):c.*1190C>T rs540768941 0.00001
NM_031433.4(MFRP):c.290C>T (p.Pro97Leu) rs199473708 0.00001
NM_001278431.2(C1QTNF5):c.214+16C>T
NM_001278431.2(C1QTNF5):c.583dup (p.Ala195fs) rs369839371
NM_031433.4(MFRP):c.55-17_55-15dup rs143351376
NM_031433.4(MFRP):c.642-18del

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